Aline Saunier
Metz, France
Last Updated: 09/26/2026
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Found 8 publications
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
The relevance of ultradeep sequencing for low HIV-1 viral loads and proviruses in the clinical setting.
Journal: Journal of medical virology
Published: March 06, 2024
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Journal: American journal of human genetics
Published: July 21, 2016
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
Journal: Clinical genetics
Published: January 11, 2016
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Journal: Clinical genetics
Published: January 04, 2016
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Journal: Journal of medical genetics
Published: November 21, 2014
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
Journal: European journal of human genetics : EJHG
Published: June 29, 2012
MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.
Journal: Clinical genetics
Published: March 28, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026